rs147136530
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147136530(C;C) |
Make rs147136530(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 12001426 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs147136530 |
dbSNP (classic) | rs147136530 |
ClinGen | rs147136530 |
ebi | rs147136530 |
HLI | rs147136530 |
Exac | rs147136530 |
Gnomad | rs147136530 |
Varsome | rs147136530 |
LitVar | rs147136530 |
Map | rs147136530 |
PheGenI | rs147136530 |
Biobank | rs147136530 |
1000 genomes | rs147136530 |
hgdp | rs147136530 |
ensembl | rs147136530 |
geneview | rs147136530 |
scholar | rs147136530 |
rs147136530 | |
pharmgkb | rs147136530 |
gwascentral | rs147136530 |
openSNP | rs147136530 |
23andMe | rs147136530 |
SNPshot | rs147136530 |
SNPdbe | rs147136530 |
MSV3d | rs147136530 |
GWAS Ctlg | rs147136530 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147136530(C;C) |
Alt | rs147136530(C;C) |
Reference | Rs147136530(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | MFN2 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.12061483G>C |
CLNSRC | |
CLNACC | RCV000199052.2, |